Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1)
about
Exome sequencing and functional analysis identifies a novel mutation in EXT1 gene that causes multiple osteochondromasMultiple osteochondromasMutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type IThe putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfateIn vitro polymerization of heparan sulfate backbone by the EXT proteinsMutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostosesIdentification and localization of the gene for EXTL, a third member of the multiple exostoses gene familyThe EXT1/EXT2 tumor suppressors: catalytic activities and role in heparan sulfate biosynthesis.Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses.EXT-mutation analysis and loss of heterozygosity in sporadic and hereditary osteochondromas and secondary chondrosarcomas.The structure of the human multiple exostoses 2 gene and characterization of homologs in mouse and Caenorhabditis elegansModular mechanism of Wnt signaling inhibition by Wnt inhibitory factor 1The link between heparan sulfate and hereditary bone disease: finding a function for the EXT family of putative tumor suppressor proteinsGenotype-phenotype correlation in hereditary multiple exostosesHereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignanciesMolecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genesDiminished levels of the putative tumor suppressor proteins EXT1 and EXT2 in exostosis chondrocytesClonal karyotypic abnormalities of the hereditary multiple exostoses chromosomal loci 8q24.1 (EXT1) and 11p11-12 (EXT2) in patients with sporadic and hereditary osteochondromasThe putative tumor suppressors EXT1 and EXT2 are glycosyltransferases required for the biosynthesis of heparan sulfateThe EXT2 multiple exostoses gene defines a family of putative tumour suppressor genesIdentification of a receptor for reg (regenerating gene) protein, a pancreatic beta-cell regeneration factorMice deficient in Ext2 lack heparan sulfate and develop exostosesXylosyl- and glucuronyltransferase functions of LARGE in α-dystroglycan modification are conserved in LARGE2Mutation frequencies of EXT1 and EXT2 in 43 Japanese families with hereditary multiple exostoses.Regulation of zebrafish skeletogenesis by ext2/dackel and papst1/pinscher.Unsuspected osteochondroma-like outgrowths in the cranial base of Hereditary Multiple Exostoses patients and modeling and treatment with a BMP antagonist in mice.A 4 Mb cryptic deletion associated with inv(8)(q13.1q24.11) in a patient with trichorhinophalangeal syndrome type I.A mouse model of osteochondromagenesis from clonal inactivation of Ext1 in chondrocytes.Multiple osteochondromas: clinicopathological and genetic spectrum and suggestions for clinical management.Life without perlecan has its problems.A mouse model of chondrocyte-specific somatic mutation reveals a role for Ext1 loss of heterozygosity in multiple hereditary exostoses.Breakpoint characterization of large deletions in EXT1 or EXT2 in 10 multiple osteochondromas familiesChemical Tumor Biology of Heparan Sulfate Proteoglycans.Enchondromatosis: insights on the different subtypes.Etiological point mutations in the hereditary multiple exostoses gene EXT1: a functional analysis of heparan sulfate polymerase activityDemonstration of a novel gene DEXT3 of Drosophila melanogaster as the essential N-acetylglucosamine transferase in the heparan sulfate biosynthesis: chain initiation and elongation.A broad spectrum of genomic changes in latinamerican patients with EXT1/EXT2-CDGGenetics of morphogen gradients.Of brain and bone: the unusual case of Dr. A.Interstitial deletion of 11(p11.2p12): a newly described contiguous gene deletion syndrome involving the gene for hereditary multiple exostoses (EXT2).
P2860
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P2860
Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1)
description
1995 nî lūn-bûn
@nan
1995 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
name
Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1)
@ast
Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1)
@en
Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1)
@en-gb
Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1)
@nl
type
label
Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1)
@ast
Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1)
@en
Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1)
@en-gb
Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1)
@nl
prefLabel
Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1)
@ast
Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1)
@en
Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1)
@en-gb
Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1)
@nl
P2093
P3181
P356
P1433
P1476
Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1)
@en
P2093
B Horsthemke
H J Lüdecke
M J Wagner
W A Horton
P2888
P304
P3181
P356
10.1038/NG1095-137
P407
P577
1995-10-01T00:00:00Z
P6179
1023759216